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1.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.

2.

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

Mullins N, Bigdeli TB, Børglum AD, Coleman JRI, Demontis D, Mehta D, Power RA, Ripke S, Stahl EA, Starnawska A, Anjorin A; M.R.C.Psych, Corvin A, Sanders AR, Forstner AJ, Reif A, Koller AC, Świątkowska B, Baune BT, Müller-Myhsok B, Penninx BWJH, Pato C, Zai C, Rujescu D, Hougaard DM, Quested D, Levinson DF, Binder EB, Byrne EM, Agerbo E; Dr.Med.Sc, Streit F, Mayoral F, Bellivier F, Degenhardt F, Breen G, Morken G, Turecki G, Rouleau GA, Grabe HJ, Völzke H, Jones I, Giegling I, Agartz I, Melle I, Lawrence J; M.R.C.Psych, Walters JTR, Strohmaier J, Shi J, Hauser J, Biernacka JM, Vincent JB, Kelsoe J, Strauss JS, Lissowska J, Pimm J; M.R.C.Psych, Smoller JW, Guzman-Parra J, Berger K, Scott LJ, Jones LA, Azevedo MH, Trzaskowski M, Kogevinas M, Rietschel M, Boks M, Ising M, Grigoroiu-Serbanescu M, Hamshere ML, Leboyer M, Frye M, Nöthen MM, Alda M, Preisig M, Nordentoft M, Boehnke M, O'Donovan MC, Owen MJ, Pato MT, Renteria ME, Budde M; Dipl.-Psych, Weissman MM, Wray NR, Bass N; M.R.C.Psych, Craddock N, Smeland OB, Andreassen OA, Mors O, Gejman PV, Sklar P, McGrath P, Hoffmann P, McGuffin P, Lee PH, Mortensen PB, Kahn RS, Ophoff RA, Adolfsson R, Van der Auwera S, Djurovic S, Kloiber S, Heilmann-Heimbach S, Jamain S, Hamilton SP, McElroy SL, Lucae S, Cichon S, Schulze TG, Hansen T, Werge T, Air TM, Nimgaonkar V, Appadurai V, Cahn W, Milaneschi Y; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Fanous AH, Kendler KS, McQuillin A, Lewis CM.

Am J Psychiatry. 2019 Jun 5:appiajp201918080957. doi: 10.1176/appi.ajp.2019.18080957. [Epub ahead of print]

PMID:
31164008
3.

Genome-wide estimates of heritability and genetic correlations in essential tremor.

Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P.

Parkinsonism Relat Disord. 2019 May 4. pii: S1353-8020(19)30223-8. doi: 10.1016/j.parkreldis.2019.05.002. [Epub ahead of print]

PMID:
31085086
4.

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Gama MTD, Braga-Neto P, Dutra LA, Alessi H, Maria LA, Gadelha AA, Ortiz BB, Kunii I, Correia-Silva SR, Dias da Silva MR, Dion PA, Rouleau GA, França MC Jr, Barsottini OGP, Pedroso JL.

Cerebellum. 2019 May 2. doi: 10.1007/s12311-019-01033-5. [Epub ahead of print]

PMID:
31049853
5.

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A, Antilla V, Awasthi S, Badner JA, Bækvad-Hansen M, Barchas JD, Bass N, Bauer M, Belliveau R, Bergen SE, Pedersen CB, Bøen E, Boks MP, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney AW, Chen D, Churchhouse C, Clarke TK, Coryell W, Craig DW, Cruceanu C, Curtis D, Czerski PM, Dale AM, de Jong S, Degenhardt F, Del-Favero J, DePaulo JR, Djurovic S, Dobbyn AL, Dumont A, Elvsåshagen T, Escott-Price V, Fan CC, Fischer SB, Flickinger M, Foroud TM, Forty L, Frank J, Fraser C, Freimer NB, Frisén L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen MG, Goldstein J, Gordon SD, Gordon-Smith K, Green EK, Green MJ, Greenwood TA, Grove J, Guan W, Guzman-Parra J, Hamshere ML, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson JS, Juréus A, Kandaswamy R, Karlsson R, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koller AC, Kupka R, Lavebratt C, Lawrence J, Lawson WB, Leber M, Lee PH, Levy SE, Li JZ, Liu C, Lucae S, Maaser A, MacIntyre DJ, Mahon PB, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis MG, McKay JD, Medeiros H, Medland SE, Meng F, Milani L, Montgomery GW, Morris DW, Mühleisen TW, Mullins N, Nguyen H, Nievergelt CM, Adolfsson AN, Nwulia EA, O'Donovan C, Loohuis LMO, Ori APS, Oruc L, Ösby U, Perlis RH, Perry A, Pfennig A, Potash JB, Purcell SM, Regeer EJ, Reif A, Reinbold CS, Rice JP, Rivas F, Rivera M, Roussos P, Ruderfer DM, Ryu E, Sánchez-Mora C, Schatzberg AF, Scheftner WA, Schork NJ, Shannon Weickert C, Shehktman T, Shilling PD, Sigurdsson E, Slaney C, Smeland OB, Sobell JL, Søholm Hansen C, Spijker AT, St Clair D, Steffens M, Strauss JS, Streit F, Strohmaier J, Szelinger S, Thompson RC, Thorgeirsson TE, Treutlein J, Vedder H, Wang W, Watson SJ, Weickert TW, Witt SH, Xi S, Xu W, Young AH, Zandi P, Zhang P, Zöllner S; eQTLGen Consortium; BIOS Consortium, Adolfsson R, Agartz I, Alda M, Backlund L, Baune BT, Bellivier F, Berrettini WH, Biernacka JM, Blackwood DHR, Boehnke M, Børglum AD, Corvin A, Craddock N, Daly MJ, Dannlowski U, Esko T, Etain B, Frye M, Fullerton JM, Gershon ES, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard DM, Hultman CM, Jones I, Jones LA, Kahn RS, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Martin NG, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Metspalu A, Mitchell PB, Morken G, Mors O, Mortensen PB, Müller-Myhsok B, Myers RM, Neale BM, Nimgaonkar V, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Owen MJ, Paciga SA, Pato C, Pato MT, Posthuma D, Ramos-Quiroga JA, Ribasés M, Rietschel M, Rouleau GA, Schalling M, Schofield PR, Schulze TG, Serretti A, Smoller JW, Stefansson H, Stefansson K, Stordal E, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Werge T, Nurnberger JI, Wray NR, Di Florio A, Edenberg HJ, Cichon S, Ophoff RA, Scott LJ, Andreassen OA, Kelsoe J, Sklar P; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium.

Nat Genet. 2019 May;51(5):793-803. doi: 10.1038/s41588-019-0397-8. Epub 2019 May 1.

PMID:
31043756
6.

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues.

Ross JP, Leblond CS, Catoire H, Volkening K, Strong M, Zinman L, Robertson J, Dion PA, Rouleau GA.

Neurol Genet. 2019 Mar 19;5(2):e317. doi: 10.1212/NXG.0000000000000317. eCollection 2019 Apr.

7.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N.

Hum Genomics. 2019 Apr 16;13(1):19. doi: 10.1186/s40246-019-0203-9.

8.

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.

Gelfman S, Dugger S, de Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider NA, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau GA, Brown RH Jr, Gitler AD, Myers RM, Petrovski S, Allen A, Goldstein DB, Harms MB.

Genome Res. 2019 May;29(5):809-818. doi: 10.1101/gr.243592.118. Epub 2019 Apr 2.

PMID:
30940688
9.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.

PMID:
30929741
10.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M.

Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28.

PMID:
30924036
11.

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.

Abu-Baker A, Kharma N, Perreault J, Grant A, Shekarabi M, Maios C, Dona M, Neri C, Dion PA, Parker A, Varin L, Rouleau GA.

Mol Ther Nucleic Acids. 2019 Apr 15;15:12-25. doi: 10.1016/j.omtn.2019.02.003. Epub 2019 Feb 15.

12.

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z.

Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20.

PMID:
30788890
13.

Screening of novel restless legs syndrome-associated genes in French-Canadian families.

Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA, Rouleau GA.

Neurol Genet. 2018 Dec 20;4(6):e296. doi: 10.1212/NXG.0000000000000296. eCollection 2018 Dec.

14.

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.

Eur J Med Genet. 2018 Dec 17. pii: S1769-7212(18)30416-6. doi: 10.1016/j.ejmg.2018.12.010. [Epub ahead of print]

PMID:
30572172
15.

Whole exome sequencing identifies novel predisposing genes in neural tube defects.

Lemay P, De Marco P, Traverso M, Merello E, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, Audibert F, Michaud JL, Cama A, Rouleau GA, Kibar Z, Capra V.

Mol Genet Genomic Med. 2019 Jan;7(1):e00467. doi: 10.1002/mgg3.467. Epub 2018 Nov 10.

16.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z.

Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31.

17.

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2018 Oct 30. doi: 10.1002/ajmg.b.32683. [Epub ahead of print]

PMID:
30378261
18.

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

Liao C, Houle G, He Q, Laporte AD, Girard SL, Dion PA, Rouleau GA.

Parkinsonism Relat Disord. 2019 Apr;61:238-240. doi: 10.1016/j.parkreldis.2018.10.022. Epub 2018 Oct 19. No abstract available.

PMID:
30366831
19.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.

Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mol Neurobiol. 2019 Jun;56(6):4317-4321. doi: 10.1007/s12035-018-1369-1. Epub 2018 Oct 12.

PMID:
30315477
20.

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1.

Catoire H, Sarayloo F, Mourabit Amari K, Apuzzo S, Grant A, Rochefort D, Xiong L, Montplaisir J, Earley CJ, Turecki G, Dion PA, Rouleau GA.

Sci Rep. 2018 Aug 15;8(1):12173. doi: 10.1038/s41598-018-30665-6.

21.

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN, Gan-Or Z.

Neurobiol Aging. 2018 Dec;72:187.e1-187.e3. doi: 10.1016/j.neurobiolaging.2018.06.034. Epub 2018 Jul 2.

PMID:
30037697
22.

Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study.

Kalman JL, Papiol S, Forstner AJ, Heilbronner U, Degenhardt F, Strohmaier J, Adli M, Adorjan K, Akula N, Alda M, Anderson-Schmidt H, Andlauer TF, Anghelescu IG, Ardau R, Arias B, Arolt V, Aubry JM, Backlund L, Bartholdi K, Bauer M, Baune BT, Becker T, Bellivier F, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, Brichant-Petitjean C, Budde M, Cervantes P, Chillotti C, Cichon S, Clark SR, Colom F, Comes AL, Cruceanu C, Czerski PM, Dannlowski U, Dayer A, Del Zompo M, DePaulo JR, Dietrich DE, Étain B, Ethofer T, Falkai P, Fallgatter A, Figge C, Flatau L, Folkerts H, Frisen L, Frye MA, Fullerton JM, Gade K, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Gryaznova A, Hake M, Hauser J, Herms S, Hoffmann P, Hou L, Jäger M, Jamain S, Jiménez E, Juckel G, Kahn JP, Kassem L, Kelsoe J, Kittel-Schneider S, Kliwicki S, Klohn-Sagatholislam F, Koller M, König B, Konrad C, Lackner N, Laje G, Landén M, Lang FU, Lavebratt C, Leboyer M, Leckband SG, Maj M, Manchia M, Martinsson L, McCarthy MJ, McElroy SL, McMahon FJ, Mitchell PB, Mitjans M, Mondimore FM, Monteleone P, Nieratschker V, Nievergelt CM, Novák T, Ösby U, Pfennig A, Potash JB, Reich-Erkelenz D, Reif A, Reimer J, Reininghaus E, Reitt M, Ripke S, Rouleau GA, Rybakowski JK, Schalling M, Scherk H, Schmauß M, Schofield PR, Schubert KO, Schulte EC, Schulz S, Senner F, Severino G, Shekhtman T, Shilling PD, Simhandl C, Slaney CM, Spitzer C, Squassina A, Stamm T, Stegmaier S, Stierl S, Stopkova P, Thiel A, Tighe SK, Tortorella A, Turecki G, Vieta E, Veeh J, von Hagen M, Wigand ME, Wiltfang J, Witt S, Wright A, Zandi PP, Zimmermann J, Nöthen M, Rietschel M, Schulze TG.

Bipolar Disord. 2019 Feb;21(1):68-75. doi: 10.1111/bdi.12659. Epub 2018 Jun 28.

PMID:
29956436
23.

Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

Soler J, Fañanás L, Parellada M, Krebs MO, Rouleau GA, Fatjó-Vilas M.

J Psychiatry Neurosci. 2018 Jul;43(4):223-244.

24.

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Mühleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QS, Nauck M, Schoevers RA, Beekman AT, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer 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Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

25.

Analysis of the Influence of microRNAs in Lithium Response in Bipolar Disorder.

Reinbold CS, Forstner AJ, Hecker J, Fullerton JM, Hoffmann P, Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Backlund L, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, Marie-Claire C, Cervantes P, Chen GB, Chen HC, Chillotti C, Clark SR, Colom F, Cousins DA, Cruceanu C, Czerski PM, Dayer A, Étain B, Falkai P, Frisén L, Gard S, Garnham JS, Goes FS, Grof P, Gruber O, Hashimoto R, Hauser J, Herms S, Jamain S, Jiménez E, Kahn JP, Kassem L, Kittel-Schneider S, Kliwicki S, König B, Kusumi I, Lackner N, Laje G, Landén M, Lavebratt C, Leboyer M, Leckband SG, López Jaramillo CA, MacQueen G, Manchia M, Martinsson L, Mattheisen M, McCarthy MJ, McElroy SL, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Ösby U, Ozaki N, Perlis RH, Pfennig A, Reich-Erkelenz D, Rouleau GA, Schofield PR, Schubert KO, Schweizer BW, Seemüller F, Severino G, Shekhtman T, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Smoller JW, Squassina A, Stamm TJ, Stopkova P, Tighe SK, Tortorella A, Turecki G, Volkert J, Witt SH, Wright AJ, Young LT, Zandi PP, Potash JB, DePaulo JR, Bauer M, Reininghaus E, Novák T, Aubry JM, Maj M, Baune BT, Mitchell PB, Vieta E, Frye MA, Rybakowski JK, Kuo PH, Kato T, Grigoroiu-Serbanescu M, Reif A, Del Zompo M, Bellivier F, Schalling M, Wray NR, Kelsoe JR, Alda M, McMahon FJ, Schulze TG, Rietschel M, Nöthen MM, Cichon S.

Front Psychiatry. 2018 May 31;9:207. doi: 10.3389/fpsyt.2018.00207. eCollection 2018.

26.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA.

Mol Psychiatry. 2018 Jun 12. doi: 10.1038/s41380-018-0103-8. [Epub ahead of print]

27.

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing.

Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT.

Hum Genome Var. 2018 Mar 8;5:18001. doi: 10.1038/hgv.2018.1. eCollection 2018.

28.

Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

Soler J, Fañanás L, Parellada M, Krebs MO, Rouleau GA, Fatjó-Vilas M.

J Psychiatry Neurosci. 2018 May 28;43(4):170066. doi: 10.1503/jpn.170066. [Epub ahead of print]

PMID:
29808791
29.

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia.

Gama MTD, Piccinin CC, Rezende TJR, Dion PA, Rouleau GA, França Junior MC, Barsottini OGP, Pedroso JL.

J Neurol Sci. 2018 Jul 15;390:227-230. doi: 10.1016/j.jns.2018.05.003. Epub 2018 May 4.

PMID:
29801895
30.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.

Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Labbe C, Ferman TJ, Dion PA, Fan D, Desautels A, Gagnon JF, Dupré N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA, Gan-Or Z.

Mov Disord. 2018 Jul;33(6):1016-1020. doi: 10.1002/mds.27385. Epub 2018 May 14.

PMID:
29756641
31.

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Apr 17;18(1):138. doi: 10.1186/s12887-018-1114-y.

32.

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population.

Wang B, Bao S, Zhang Z, Zhou X, Wang J, Fan Y, Zhang Y, Li Y, Chen L, Jia Y, Li J, Li M, Zheng W, Mu N, Wang L, Yu Z, Wong DSM, Zhang Y, Kwan J, Ka-Fung Mak H, Ambalavanan A, Zhou S, Cai W, Zheng J, Huang S, Rouleau GA, Yang W, Rogaeva E, Ma X, St George-Hyslop P, Chu LW, Song YQ.

Neurobiol Aging. 2018 Aug;68:160.e1-160.e7. doi: 10.1016/j.neurobiolaging.2018.03.006. Epub 2018 Mar 10.

PMID:
29656768
33.

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.

Ouled Amar Bencheikh B, Ruskey JA, Arnulf I, Dauvilliers Y, Monaca CC, De Cock VC, Gagnon JF, Spiegelman D, Hu MTM, Högl B, Stefani A, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Oertel W, Montplaisir JY, Postuma RB, Rouleau GA, Gan-Or Z.

Parkinsonism Relat Disord. 2018 Jul;52:98-101. doi: 10.1016/j.parkreldis.2018.03.019. Epub 2018 Mar 21.

PMID:
29576439
34.

Oppositional behavior and longitudinal predictions of early adulthood mental health problems in chronic tic disorders.

Thériault MG, Bécue JC, Lespérance P, Chouinard S, Rouleau GA, Richer F.

Psychiatry Res. 2018 Aug;266:301-308. doi: 10.1016/j.psychres.2018.03.026. Epub 2018 Mar 16.

PMID:
29576412
35.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

36.

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

Ancot F, Lemay P, Knowler SP, Kennedy K, Griffiths S, Cherubini GB, Sykes J, Mandigers PJJ, Rouleau GA, Rusbridge C, Kibar Z.

BMC Genet. 2018 Mar 22;19(1):16. doi: 10.1186/s12863-018-0605-z.

37.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

Zhou S, Gan-Or Z, Ambalavanan A, Lai D, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Foroud TM, Xiong L, Dion PA, Rouleau GA.

Sci Rep. 2018 Mar 12;8(1):4356. doi: 10.1038/s41598-018-21603-7.

38.

Recessive mutations in >VPS13D cause childhood onset movement disorders.

Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM.

Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10.

PMID:
29518281
39.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Ouled Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Feb 27;18(1):90. doi: 10.1186/s12887-018-1063-5. Erratum in: BMC Pediatr. 2018 Apr 17;18(1):138.

40.

CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem.

Benedet AL, Yu L, Labbe A, Mathotaarachchi S, Pascoal TA, Shin M, Kang MS, Gauthier S, Rouleau GA, Poirier J, Bennett DA, Rosa-Neto P; Alzheimer's Disease Neuroimaging Initiative.

Neurol Genet. 2018 Jan 30;4(1):e216. doi: 10.1212/NXG.0000000000000216. eCollection 2018 Feb.

41.

Sleep disorders and Parkinson disease; lessons from genetics.

Gan-Or Z, Alcalay RN, Rouleau GA, Postuma RB.

Sleep Med Rev. 2018 Oct;41:101-112. doi: 10.1016/j.smrv.2018.01.006. Epub 2018 Jan 31. Review.

PMID:
29449121
42.

Genetics of Intracranial Aneurysms.

Zhou S, Dion PA, Rouleau GA.

Stroke. 2018 Mar;49(3):780-787. doi: 10.1161/STROKEAHA.117.018152. Epub 2018 Feb 6. Review. No abstract available.

PMID:
29437983
43.

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M.

Am J Med Genet A. 2018 Apr;176(4):985-991. doi: 10.1002/ajmg.a.38628. Epub 2018 Feb 12.

PMID:
29430868
44.

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects.

Mohtashami S, He Q, Ruskey JA, Zhou S, Dion PA, Allen RP, Earley CJ, Fon EA, Xiong L, Dupre N, Dauvilliers Y, Rouleau GA, Gan-Or Z.

J Mol Neurosci. 2018 Mar;64(3):341-345. doi: 10.1007/s12031-018-1031-4. Epub 2018 Feb 5.

PMID:
29404899
45.

Association study of essential tremor genetic loci in Parkinson's disease.

Ross JP, Mohtashami S, Leveille E, Johnson AM, Xiong L, Dion PA, Fon E, Dauvilliers Y, Dupré N, Rouleau GA, Gan-Or Z.

Neurobiol Aging. 2018 Jun;66:178.e13-178.e15. doi: 10.1016/j.neurobiolaging.2018.01.001. Epub 2018 Jan 6.

PMID:
29398123
46.

Alpha galactosidase A activity in Parkinson's disease.

Alcalay RN, Wolf P, Levy OA, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah H, Liong C, Narayan S, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Oliva P, Keutzer J, Marder K, Zhang XK.

Neurobiol Dis. 2018 Apr;112:85-90. doi: 10.1016/j.nbd.2018.01.012. Epub 2018 Feb 2.

47.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL.

Genet Med. 2018 Jul;20(7):745-753. doi: 10.1038/gim.2017.173. Epub 2017 Oct 26.

PMID:
29261186
48.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.

Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. No abstract available.

49.

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder.

Mühleisen TW, Reinbold CS, Forstner AJ, Abramova LI, Alda M, Babadjanova G, Bauer M, Brennan P, Chuchalin A, Cruceanu C, Czerski PM, Degenhardt F, Fischer SB, Fullerton JM, Gordon SD, Grigoroiu-Serbanescu M, Grof P, Hauser J, Hautzinger M, Herms S, Hoffmann P, Kammerer-Ciernioch J, Khusnutdinova E, Kogevinas M, Krasnov V, Lacour A, Laprise C, Leber M, Lissowska J, Lucae S, Maaser A, Maier W, Martin NG, Mattheisen M, Mayoral F, McKay JD, Medland SE, Mitchell PB, Moebus S, Montgomery GW, Müller-Myhsok B, Oruc L, Pantelejeva G, Pfennig A, Pojskic L, Polonikov A, Reif A, Rivas F, Rouleau GA, Schenk LM, Schofield PR, Schwarz M, Streit F, Strohmaier J, Szeszenia-Dabrowska N, Tiganov AS, Treutlein J, Turecki G, Vedder H, Witt SH, Schulze TG, Rietschel M, Nöthen MM, Cichon S.

J Affect Disord. 2018 Mar 1;228:20-25. doi: 10.1016/j.jad.2017.11.068. Epub 2017 Nov 14.

PMID:
29197740
50.

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

Cruceanu C, Schmouth JF, Torres-Platas SG, Lopez JP, Ambalavanan A, Darcq E, Gross F, Breton B, Spiegelman D, Rochefort D, Hince P, Petite JM, Gauthier J, Lafrenière RG, Dion PA, Greenwood CM, Kieffer BL, Alda M, Turecki G, Rouleau GA.

Mol Psychiatry. 2018 Oct;23(10):2050-2056. doi: 10.1038/mp.2017.223. Epub 2017 Nov 21.

PMID:
29158579

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